𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Spectrum of Mutations in USH2A in British Patients with Usher Syndrome Type II

✍ Scribed by Bart P Leroy; José A Aragon-Martin; Michael D Weston; David A.R Bessant; Catherine Willis; Andrew R Webster; Alan C Bird; William J Kimberling; Annette M Payne; Shomi S Bhattacharya


Book ID
115605698
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
159 KB
Volume
72
Category
Article
ISSN
0014-4835

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Spectrum of USH2A mutations in Scandinav
✍ Bo Dreyer; Vigdis Brox; Lisbeth Tranebjærg; Thomas Rosenberg; Andrè M. Sadeghi; 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 1 views

## Communicated by Andreas Gal Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing impairment, normal balance function and progressive visual impairment due to retinitis pigmentosa. Usher syndrome type IIa, the most common su

USH2A Mutation analysis in 70 Dutch fami
✍ Ronald J.E. Pennings; Heleen te Brinke; Michael D. Weston; Annemarie Claassen; D 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 1 views

Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis

Mutations in Myosin VIIA (MYO7A) and Ush
✍ Carmen Nájera; Magdalena Beneyto; José Blanca; Elena Aller; Ana Fontcuberta; Jos 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB 👁 1 views

Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment and retinitis pigmentosa. Three clinical types are known (USH1, USH2 and USH3), and there is an extensive genetic heterogeneity, with at least ten genes implicated. The most frequently mutated genes are